Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713648C>G , CM000681.2:g.6713648C>G | GRCh38 |
| NC_000019.9:g.6713659C>G , CM000681.1:g.6713659C>G | GRCh37 |
| NC_000019.8:g.6664659C>G | NCBI36 |
| NG_009557.1:g.12004G>C , LRG_27:g.12004G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651-139G>C | ENSP00000512083.1:n.651-139G>C | |
| ENST00000245907.11:c.774-139G>C MANE Select | ENSP00000245907.4:n.774-139G>C | |
| ENST00000245907.10:c.774-139G>C | ENSP00000245907.4:n.774-139G>C | |
| ENST00000595577.1:n.278-139G>C | ||
| ENST00000597442.5:n.23+118G>C | ||
| NM_000064.3:c.774-139G>C | NP_000055.2:n.774-139G>C | |
| NM_000064.4:c.774-139G>C MANE Select | NP_000055.2:n.774-139G>C |